Canonical Allele Identifier: CA1723630631
Community Standard Title: NM_001348946.2(ABCB1):c.2685+651_2685+652delinsTA
Gene: ABCB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87530642_87530643delinsTA , CM000669.2:g.87530642_87530643delinsTA GRCh38
NC_000007.13:g.87159958_87159959delinsTA , CM000669.1:g.87159958_87159959delinsTA GRCh37
NC_000007.12:g.86997894_86997895delinsTA NCBI36
NG_011513.1:g.187606_187607delinsTA

Transcript Alleles

HGVS Amino-acid Change
NM_001348946.2:c.2685+651_2685+652delinsTA MANE Select NP_001335875.1:n.2685+651_2685+652delinsTA
ENST00000622132.5:c.2685+651_2685+652delinsTA MANE Select ENSP00000478255.1:n.2685+651_2685+652delinsTA
NM_000927.4:c.2685+651_2685+652delinsTA NP_000918.2:n.2685+651_2685+652delinsTA
NM_000927.5:c.2685+651_2685+652delinsTA NP_000918.2:n.2685+651_2685+652delinsTA
NM_001348944.1:c.2685+651_2685+652delinsTA NP_001335873.1:n.2685+651_2685+652delinsTA
NM_001348944.2:c.2685+651_2685+652delinsTA NP_001335873.1:n.2685+651_2685+652delinsTA
NM_001348945.1:c.2895+651_2895+652delinsTA NP_001335874.1:n.2895+651_2895+652delinsTA
NM_001348945.2:c.2895+651_2895+652delinsTA NP_001335874.1:n.2895+651_2895+652delinsTA
NM_001348946.1:c.2685+651_2685+652delinsTA NP_001335875.1:n.2685+651_2685+652delinsTA
ENST00000265724.7:c.2685+651_2685+652delinsTA ENSP00000265724.3:n.2685+651_2685+652delinsTA
ENST00000265724.8:c.2685+651_2685+652delinsTA ENSP00000265724.3:n.2685+651_2685+652delinsTA
ENST00000488737.6:n.327+651_327+652delinsTA
ENST00000496821.5:n.313+651_313+652delinsTA
ENST00000543898.5:c.2493+651_2493+652delinsTA ENSP00000444095.1:n.2493+651_2493+652delinsTA
ENST00000622132.4:c.2685+651_2685+652delinsTA ENSP00000478255.1:n.2685+651_2685+652delinsTA